Incidental Mutation 'R1734:Trim35'
ID |
199592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim35
|
Ensembl Gene |
ENSMUSG00000022043 |
Gene Name |
tripartite motif-containing 35 |
Synonyms |
A430106H13Rik, Hls5, Mair, 0710005M05Rik |
MMRRC Submission |
039766-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R1734 (G1)
|
Quality Score |
155 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
66534480-66548873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66546778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 515
(D515G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022623]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022623
AA Change: D515G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022623 Gene: ENSMUSG00000022043 AA Change: D515G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
low complexity region
|
18 |
29 |
N/A |
INTRINSIC |
RING
|
36 |
75 |
6.89e-8 |
SMART |
BBOX
|
111 |
152 |
1.27e-6 |
SMART |
coiled coil region
|
219 |
267 |
N/A |
INTRINSIC |
PRY
|
316 |
367 |
4.41e-15 |
SMART |
Pfam:SPRY
|
370 |
495 |
3.5e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121006
|
SMART Domains |
Protein: ENSMUSP00000112877 Gene: ENSMUSG00000022043
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
RING
|
30 |
69 |
6.89e-8 |
SMART |
BBOX
|
105 |
146 |
1.27e-6 |
SMART |
coiled coil region
|
212 |
260 |
N/A |
INTRINSIC |
low complexity region
|
330 |
343 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0867 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 92.9%
|
Validation Efficiency |
98% (59/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
T |
4: 144,396,596 (GRCm39) |
C379S |
probably benign |
Het |
Abca13 |
T |
C |
11: 9,535,460 (GRCm39) |
C4695R |
probably benign |
Het |
Actr10 |
T |
A |
12: 71,008,770 (GRCm39) |
V401E |
probably benign |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Aimp1 |
A |
T |
3: 132,380,557 (GRCm39) |
I59K |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,618,532 (GRCm39) |
|
probably null |
Het |
Anln |
A |
T |
9: 22,262,251 (GRCm39) |
S947T |
possibly damaging |
Het |
Atp2c1 |
T |
C |
9: 105,291,854 (GRCm39) |
T733A |
probably damaging |
Het |
BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
Cblb |
T |
C |
16: 52,006,603 (GRCm39) |
|
probably benign |
Het |
Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Chac1 |
A |
T |
2: 119,183,939 (GRCm39) |
L180F |
probably damaging |
Het |
Cherp |
A |
T |
8: 73,223,932 (GRCm39) |
|
probably null |
Het |
Ckap4 |
A |
G |
10: 84,363,738 (GRCm39) |
S442P |
probably benign |
Het |
Clstn3 |
G |
A |
6: 124,413,773 (GRCm39) |
|
probably benign |
Het |
Crb2 |
T |
A |
2: 37,683,668 (GRCm39) |
C1057S |
probably damaging |
Het |
Dact2 |
T |
C |
17: 14,416,901 (GRCm39) |
D433G |
probably benign |
Het |
Dnah6 |
G |
A |
6: 73,021,744 (GRCm39) |
T3526M |
probably damaging |
Het |
Ethe1 |
A |
G |
7: 24,307,809 (GRCm39) |
T210A |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,172,197 (GRCm39) |
S2839P |
probably benign |
Het |
Fbxl7 |
T |
C |
15: 26,543,735 (GRCm39) |
Y304C |
probably damaging |
Het |
Gad1-ps |
A |
T |
10: 99,281,637 (GRCm39) |
|
noncoding transcript |
Het |
Grm3 |
C |
T |
5: 9,639,742 (GRCm39) |
R101K |
probably benign |
Het |
Hspa12b |
A |
G |
2: 130,980,456 (GRCm39) |
Y125C |
possibly damaging |
Het |
Il10ra |
T |
C |
9: 45,167,241 (GRCm39) |
T437A |
probably benign |
Het |
Itprid2 |
G |
A |
2: 79,488,166 (GRCm39) |
V750M |
probably damaging |
Het |
Jcad |
T |
C |
18: 4,674,526 (GRCm39) |
F763L |
probably damaging |
Het |
Map3k10 |
T |
C |
7: 27,357,540 (GRCm39) |
D746G |
probably damaging |
Het |
Mettl9 |
T |
A |
7: 120,647,064 (GRCm39) |
Y57N |
probably damaging |
Het |
Nav2 |
G |
A |
7: 49,225,468 (GRCm39) |
E1803K |
probably damaging |
Het |
Nol11 |
G |
A |
11: 107,066,449 (GRCm39) |
S447L |
possibly damaging |
Het |
Or14a256 |
C |
T |
7: 86,265,425 (GRCm39) |
V143M |
probably benign |
Het |
Osbpl1a |
T |
C |
18: 12,921,373 (GRCm39) |
|
probably null |
Het |
Pde6a |
A |
G |
18: 61,419,036 (GRCm39) |
N804S |
probably damaging |
Het |
Pepd |
A |
T |
7: 34,730,851 (GRCm39) |
D301V |
probably benign |
Het |
Piwil2 |
A |
T |
14: 70,663,954 (GRCm39) |
|
probably null |
Het |
Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
Prrc2a |
A |
G |
17: 35,369,683 (GRCm39) |
S1877P |
possibly damaging |
Het |
Retreg2 |
G |
T |
1: 75,119,630 (GRCm39) |
|
probably null |
Het |
Slc7a11 |
G |
A |
3: 50,326,795 (GRCm39) |
Q489* |
probably null |
Het |
Sned1 |
G |
A |
1: 93,187,490 (GRCm39) |
D256N |
probably damaging |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Spmip9 |
T |
A |
6: 70,890,645 (GRCm39) |
Q49L |
probably benign |
Het |
Syce2 |
G |
A |
8: 85,613,776 (GRCm39) |
E168K |
probably benign |
Het |
Tmem260 |
G |
T |
14: 48,746,550 (GRCm39) |
V609L |
probably benign |
Het |
Tspan5 |
T |
C |
3: 138,603,901 (GRCm39) |
Y131H |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,586,319 (GRCm39) |
I466V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,576,157 (GRCm39) |
D24912G |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,603,323 (GRCm39) |
N1843K |
probably damaging |
Het |
Vmn1r20 |
A |
G |
6: 57,409,285 (GRCm39) |
R204G |
probably damaging |
Het |
Vps18 |
A |
T |
2: 119,124,423 (GRCm39) |
Q450L |
probably benign |
Het |
Zbtb4 |
A |
G |
11: 69,667,289 (GRCm39) |
E198G |
probably benign |
Het |
|
Other mutations in Trim35 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01652:Trim35
|
APN |
14 |
66,546,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02398:Trim35
|
APN |
14 |
66,546,697 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03132:Trim35
|
APN |
14 |
66,546,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R0759:Trim35
|
UTSW |
14 |
66,546,236 (GRCm39) |
missense |
probably benign |
0.02 |
R0799:Trim35
|
UTSW |
14 |
66,546,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R0848:Trim35
|
UTSW |
14 |
66,546,574 (GRCm39) |
missense |
probably benign |
0.01 |
R1170:Trim35
|
UTSW |
14 |
66,546,248 (GRCm39) |
missense |
probably benign |
0.35 |
R1751:Trim35
|
UTSW |
14 |
66,541,617 (GRCm39) |
missense |
probably damaging |
0.97 |
R1767:Trim35
|
UTSW |
14 |
66,541,617 (GRCm39) |
missense |
probably damaging |
0.97 |
R2259:Trim35
|
UTSW |
14 |
66,546,711 (GRCm39) |
nonsense |
probably null |
|
R3963:Trim35
|
UTSW |
14 |
66,541,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R4572:Trim35
|
UTSW |
14 |
66,545,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R5068:Trim35
|
UTSW |
14 |
66,546,421 (GRCm39) |
unclassified |
probably benign |
|
R5069:Trim35
|
UTSW |
14 |
66,546,421 (GRCm39) |
unclassified |
probably benign |
|
R5070:Trim35
|
UTSW |
14 |
66,546,421 (GRCm39) |
unclassified |
probably benign |
|
R5372:Trim35
|
UTSW |
14 |
66,534,715 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5886:Trim35
|
UTSW |
14 |
66,541,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R5886:Trim35
|
UTSW |
14 |
66,541,502 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6018:Trim35
|
UTSW |
14 |
66,546,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R6165:Trim35
|
UTSW |
14 |
66,546,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R6326:Trim35
|
UTSW |
14 |
66,540,653 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6476:Trim35
|
UTSW |
14 |
66,546,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R7084:Trim35
|
UTSW |
14 |
66,546,271 (GRCm39) |
missense |
probably damaging |
0.98 |
R7192:Trim35
|
UTSW |
14 |
66,534,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R7350:Trim35
|
UTSW |
14 |
66,546,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R7546:Trim35
|
UTSW |
14 |
66,540,696 (GRCm39) |
missense |
probably benign |
0.02 |
R7644:Trim35
|
UTSW |
14 |
66,534,546 (GRCm39) |
missense |
unknown |
|
R7916:Trim35
|
UTSW |
14 |
66,546,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R8406:Trim35
|
UTSW |
14 |
66,534,724 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8524:Trim35
|
UTSW |
14 |
66,544,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R8710:Trim35
|
UTSW |
14 |
66,545,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCTATGACTCTGAGCGCCACTG -3'
(R):5'- CACCCACAACTCTGAGCTGTATTCC -3'
Sequencing Primer
(F):5'- TGAGCGCCACTGCCATC -3'
(R):5'- acaaatagactcaataagaggcatc -3'
|
Posted On |
2014-05-23 |